Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.V1948I

ANKRD11

679 papers

RefSeq Summary

This locus encodes an ankryin repeat domain-containing protein. The encoded protein inhibits ligand-dependent activation of transcription. Mutations in this gene have been associated with KBG syndrome...

Pfam Domains

Ank_2aa 145–231UCSCAnkyrin repeats (3 copies)
Ank_2aa 228–293UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ankyrin repeat domain containing 11

HGNC Alias Symbols

LZ16; T13; ANCO1; ANCO-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_013275.6
p.V1948I
c.5842G>A
Surrounding Variants
1 paper
NM_013275.6
p.E1949Q
c.5845G>C
1 paper
NM_013275.6
p.W1950*
c.5849G>A
1 paper
NM_013275.6
p.D1935_T1944del10
c.5803_5831del30
1 paper
NM_013275.6
p.W1950*
c.5850G>A
2 papers
NM_013275.6
p.E1945*
c.5833G>T
1 paper
NM_013275.6
p.P1953delFs
c.5859delG
1 paper
NM_013275.6
p.S1954fs
c.5860_5861fs
1 paper
NM_013275.6
p.S1954fs
c.5860_5861fs
1 paper
NM_013275.6
p.E1955fs
c.5863_5864fs
1 paper
NM_013275.6
p.E1955fs
c.5863_5864fs
1 paper
NM_013275.6
p.Q1956*
c.5866C>T
1 paper
NM_013275.6
p.E1955delFs
c.5865delC
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